Mondo Disease Ontology

Last uploaded: November 25, 2024
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Preferred Name

laminopathy
Synonyms
Definitions

A rare genetic disorder caused by mutations in genes encoding proteins of the nuclear lamina.
ID

http://purl.obolibrary.org/obo/MONDO_0021106
database_cross_reference

MEDGEN:1716073

GARD:19444

MESH:D000083083

UMLS:C5392094

Orphanet:98301
definition

A rare genetic disorder caused by mutations in genes encoding proteins of the nuclear lamina.
id

MONDO:0021106
in_subset

http://purl.obolibrary.org/obo/mondo/mondo-simple#otar

http://purl.obolibrary.org/obo/mondo/mondo-simple#ordo_group_of_disorders

http://purl.obolibrary.org/obo/mondo/mondo-simple#rare

http://purl.obolibrary.org/obo/mondo/mondo-simple#disease_grouping

http://purl.obolibrary.org/obo/mondo/mondo-simple#gard_rare
label

laminopathy
notation

MONDO:0021106
prefLabel

laminopathy
skos_exactMatch

http://purl.obolibrary.org/obo/Orphanet_98301

http://linkedlifedata.com/resource/umls/id/C5392094

http://identifiers.org/medgen/1716073

http://identifiers.org/mesh/D000083083
terms_conformsTo

http://purl.obolibrary.org/obo/mondo/patterns/specific_disease_by_dysfunctional_structure.yaml
treeView

http://purl.obolibrary.org/obo/MONDO_0003847
subClassOf

http://purl.obolibrary.org/obo/MONDO_0003847
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